Acute myeloid leukemia with t(X;6)9p11;q23);MYB-GATA1 and female sex: GATA1 insufficiency may be insufficient for pathogenesis

Autor:	Alexandra E. Kovach, Elena Zerkalenkova, Ludmila Zemtsova, Aleksandra Borkovskaya, Marina Gaskova, Marat Kazanov, Alexander Popov, Liudmila Baidun, Michael Maschan, Alexey Maschan, Paul S. Gaynon, Deepa Bhojwani, Galina Novichkova, Yulia Olshanskaya, Gordana Raca
Rok vydání:	2022
Předmět:	Chromosomes Human X Cancer Research Oncogene Proteins Fusion Sequence Analysis RNA Infant Translocation Genetic Leukemia Myeloid Acute Proto-Oncogene Proteins c-myb Genetics Humans Chromosomes Human Pair 6 Female GATA1 Transcription Factor Chromosomes Human Pair 9 Molecular Biology
Zdroj:	Cancer Genetics. :37-40
ISSN:	2210-7762
DOI:	10.1016/j.cancergen.2021.11.007
Popis:	Pediatric acute myeloid leukemia (AML) is genetically heterogenous (Olsson et al., 2016). t(X;6)(p11;q23) is a rare but recurrent chromosomal translocation in infant AML thought to be associated with male sex and basophilic differentiation (Dastugue et al., 1997). Here we report molecular characterization of AML with t(X;6)(p11;q23);MYB-GATA1 in two female infants and demonstrate preserved GATA1 expression in the sample tested. These findings further debunk a concept that this fusion was restricted to males, in whom it disrupts the only copy of the X-linked GATA1 gene, causing presumable complete loss of GATA1 function. Our data also demonstrate the power and efficiency of RNA sequencing for subclassification of leukemia on a clinically relevant timeline.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::956e41fd4fe42a6ab5e11239967ca34b https://doi.org/10.1016/j.cancergen.2021.11.007 Zobrazit plný text záznamu Full Text from ScienceDirect